rs111723244
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs111723244(A;A) |
Make rs111723244(A;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 12004615 |
Gene | MFN2 |
is a | snp |
is | mentioned by |
dbSNP | rs111723244 |
dbSNP (classic) | rs111723244 |
ClinGen | rs111723244 |
ebi | rs111723244 |
HLI | rs111723244 |
Exac | rs111723244 |
Gnomad | rs111723244 |
Varsome | rs111723244 |
LitVar | rs111723244 |
Map | rs111723244 |
PheGenI | rs111723244 |
Biobank | rs111723244 |
1000 genomes | rs111723244 |
hgdp | rs111723244 |
ensembl | rs111723244 |
geneview | rs111723244 |
scholar | rs111723244 |
rs111723244 | |
pharmgkb | rs111723244 |
gwascentral | rs111723244 |
openSNP | rs111723244 |
23andMe | rs111723244 |
SNPshot | rs111723244 |
SNPdbe | rs111723244 |
MSV3d | rs111723244 |
GWAS Ctlg | rs111723244 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111723244(A;A) rs111723244(C;C) |
Alt | rs111723244(A;A) rs111723244(C;C) |
Reference | Rs111723244(T;T) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | MFN2 |
CLNDBN | Charcot-Marie-Tooth disease, type 2A2 |
Reversed | 0 |
HGVS | NC_000001.10:g.12064672T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023713.4, |